LAM
MCID: LYM007
MIFTS: 67

Lymphangioleiomyomatosis (LAM)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Immune diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Lymphangioleiomyomatosis

MalaCards integrated aliases for Lymphangioleiomyomatosis:

Name: Lymphangioleiomyomatosis 57 12 75 53 25 59 74 37 13 55 44 15 40 72
Lymphangiomyomatosis 57 12 75 25 29 55 6
Lam 57 53 25 59 74 63
Pulmonary Lymphangioleiomyomatosis 12 72
Lung Lymphangioleiomyomatosis 12 17
Lymphangioleiomyomatosis, Somatic 57
Lymphangio-Myomatosis 53

Characteristics:

Orphanet epidemiological data:

59
lymphangioleiomyomatosis
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide),1-9/1000000 (Worldwide),<1/1000000 (United States),1-9/1000000 (United States),<1/1000000 (France),1-9/1000000 (Germany),1-9/1000000 (Canada),1-9/1000000 (United Kingdom),1-9/1000000 (Switzerland),1-9/1000000 (New Zealand),1-9/1000000 (Australia),1-9/1000000 (Europe),1-9/1000000 (Netherlands); Age of onset: Adult;

HPO:

32
lymphangioleiomyomatosis:
Inheritance somatic mutation


Classifications:

Orphanet: 59  
Rare respiratory diseases


External Ids:

Disease Ontology 12 DOID:3319
OMIM 57 606690
KEGG 37 H00896
MeSH 44 D018192
NCIt 50 C38153
MESH via Orphanet 45 D018192
ICD10 via Orphanet 34 D48.7
UMLS via Orphanet 73 C0751674
Orphanet 59 ORPHA538
MedGen 42 C0751674
UMLS 72 C0349649 C0751674

Summaries for Lymphangioleiomyomatosis

Genetics Home Reference : 25 Lymphangioleiomyomatosis (LAM) is a condition that affects the lungs, the kidneys, and the lymphatic system. The lymphatic system consists of a network of vessels that transport lymph fluid and immune cells throughout the body. Lymph fluid helps exchange immune cells, proteins, and other substances between the blood and tissues. LAM is found almost exclusively in women. It often occurs as a feature of an inherited syndrome called tuberous sclerosis complex. When LAM occurs alone it is called isolated or sporadic LAM. Signs and symptoms of LAM most often appear during a woman's thirties. Affected women have an overgrowth of abnormal smooth muscle-like cells (LAM cells) in the lungs, resulting in the formation of lung cysts and the destruction of normal lung tissue. They may also have an accumulation of fluid in the cavity around the lungs (chylothorax). The lung abnormalities resulting from LAM may cause difficulty breathing (dyspnea), chest pain, and coughing, which may bring up blood (hemoptysis). Many women with this disorder have recurrent episodes of collapsed lung (spontaneous pneumothorax). The lung problems may be progressive and, without lung transplantation, may eventually lead to limitations in activities of daily living, the need for oxygen therapy, and respiratory failure. Although LAM cells are not considered cancerous, they may spread between tissues (metastasize). As a result, the condition may recur even after lung transplantation. Women with LAM may develop cysts in the lymphatic vessels of the chest and abdomen. These cysts are called lymphangioleiomyomas. Affected women may also develop tumors called angiomyolipomas made up of LAM cells, fat cells, and blood vessels. Angiomyolipomas usually develop in the kidneys. Internal bleeding is a common complication of angiomyolipomas.

MalaCards based summary : Lymphangioleiomyomatosis, also known as lymphangiomyomatosis, is related to tuberous sclerosis 1 and kidney angiomyolipoma. An important gene associated with Lymphangioleiomyomatosis is TSC2 (TSC Complex Subunit 2), and among its related pathways/superpathways are p53 signaling pathway and mTOR signaling pathway. The drugs Doxycycline and Antimalarials have been mentioned in the context of this disorder. Affiliated tissues include lung, kidney and smooth muscle, and related phenotypes are dyspnea and restrictive ventilatory defect

NIH Rare Diseases : 53 Lymphangioleiomyomatosis (lim-FAN-je-o-LI-o-MI-o-ma-TO-sis), or LAM, is a rare cystic lung disease that mostly affects women in their mid-forties. In LAM, an unusual type of cell begins to grow out of control throughout the body, including in the lungs, lymph nodes and vessels, and kidneys. Over time, these LAM cells form cysts and clusters of cells, which grow throughout the lungs and slowly block the airways. They also destroy the normal lung tissue and replace it with cysts. As a result, air cannot move freely in and out of the lungs, and the lungs cannot supply enough oxygen to the body's other organs. Some people also develop growths called angiomyolipomas (AMLs) in the kidneys. There are two forms of LAM - a sporadic form, which occurs for unknown reasons, and a form that occurs in people with a rare, inherited disease called tuberous sclerosis complex. LAM may be difficult to diagnosis in the early stages because symptoms may be similar to other lung diseases. A high resolution CT scan is the most accurate imaging test for diagnosing LAM. Additional testing may include an abdominal CT scan or ultrasound, a VEGF-D blood test (measuring the VEGF-D hormone, which would typically be high), and a lung biopsy. There are several management options for LAM, but the best course of treatment may vary from person to person. Treatment options may include therapy with an mTOR inhibitor (such as sirolimus), and supportive measures such as oxygen therapy or the use of bronchodilators. Some people may need a lung transplant when lung function is considerably impaired.

KEGG : 37
Lymphangioleiomyomatosis (LAM) is a rare lung disease, primarily affecting women. Abnormal proliferation of smooth muscle-like cells (LAM cells) within the lung is responsible for cystic destruction of the lung parenchyma and leads to chronic respiratory failure. Another characteristic feature of the disease is the development of fluid-filled lymphatic cystic structures (lymphangioleiomyomas) in the axial lymphatics and of angiomyolipomas in the kidneys. Its presentation is sporadic or associated with tuberous sclerosis complex, a dominant autosomal neurocutaneous syndrome. Both disorders have their origin in mutations of the tuberous sclerosis genes TSC1 and TSC2, which are involved in the regulation of cell signs critical for energy control and cell nutrition processes.

UniProtKB/Swiss-Prot : 74 Lymphangioleiomyomatosis: Progressive and often fatal lung disease characterized by a diffuse proliferation of abnormal smooth muscle cells in the lungs. It affects almost exclusively young women and can occur as an isolated disorder or in association with tuberous sclerosis complex.

PubMed Health : 63 About lam: LAM, or lymphangioleiomyomatosis (lim-FAN-je-o-LI-o-MI-o-ma-TO-sis), is a rare lung disease that mostly affects women of childbearing age. In LAM, abnormal, muscle-like cells begin to grow out of control in certain organs or tissues, especially the lungs, lymph nodes, and kidneys. Over time, these LAM cells can destroy the normal lung tissue. As a result, air can’t move freely in and out of the lungs. In some cases, this means the lungs can’t supply the body’s other organs with enough oxygen.

Wikipedia : 75 Lymphangioleiomyomatosis (LAM) is a rare, progressive and systemic disease that typically results in... more...

More information from OMIM: 606690

Related Diseases for Lymphangioleiomyomatosis

Diseases related to Lymphangioleiomyomatosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 311)
# Related Disease Score Top Affiliating Genes
1 tuberous sclerosis 1 33.3 TSC2 TSC1 MTOR
2 kidney angiomyolipoma 33.2 TSC2 TSC1 MTOR
3 tuberous sclerosis 31.9 TSC2 TSC1 RPS6KB1 MTOR
4 pneumothorax 31.8 TSC1 PGR MMP2 ELN
5 intravenous leiomyomatosis 31.1 ESR1 DES
6 leiomyoma 30.9 PGR ESR1 DES ACTC1
7 polycystic liver disease 1 with or without kidney cysts 30.8 TSC2 TSC1 ACTC1
8 tuberous sclerosis 2 30.8 TSC2 TSC1 MTOR
9 hepatic angiomyolipoma 30.7 TSC2 MTOR
10 lymphangiomatosis 30.7 PGR DES
11 benign metastasizing leiomyoma 30.7 PGR DES ACTC1
12 perivascular epithelioid cell tumor 30.7 TSC2 PGR DES ACTC1
13 angiolipoma 30.6 DES ACTC1
14 leiomyosarcoma 30.6 PGR DES ACTC1
15 epithelioid leiomyosarcoma 30.5 DES ACTC1
16 angiomyolipoma 30.4 TSC2 TSC1 PGR MTOR ESR1 DES
17 adenomyosis 30.4 PGR MMP2 ESR1
18 endometrial stromal sarcoma 30.3 PGR ESR1 DES ACTC1
19 carcinosarcoma 30.3 PGR DES ACTC1
20 smooth muscle tumor 30.2 PGR ESR1 DES ACTC1
21 renal cell carcinoma, nonpapillary 29.9 TSC2 TSC1 MTOR MMP2
22 breast cancer 27.5 VEGFD VEGFC RPS6KB1 PGR MTOR MMP2
23 polycystic kidney disease, infantile severe, with tuberous sclerosis 11.2
24 lung disease 10.9
25 adult hepatocellular carcinoma 10.8 TSC2 TSC1
26 respiratory failure 10.7
27 bartholin's gland adenoma 10.7 PGR ESR1
28 vestibular gland benign neoplasm 10.7 PGR ESR1
29 lung leiomyoma 10.7 PGR ESR1
30 vulvar syringoma 10.7 PGR ESR1
31 glassy cell carcinoma of the cervix 10.7 PGR ESR1
32 vulvar leiomyoma 10.7 PGR ESR1
33 trigonitis 10.7 PGR ESR1
34 vulvar benign neoplasm 10.7 PGR ESR1
35 pneumothorax, primary spontaneous 10.6
36 ovarian fibrothecoma 10.6 DES ACTC1
37 fibroblastic rheumatism 10.6 DES ACTC1
38 predominantly cortical thymoma 10.6 PGR ESR1
39 breast scirrhous carcinoma 10.6 PGR ESR1
40 breast medullary carcinoma 10.6 PGR ESR1
41 cutaneous leiomyosarcoma 10.6 DES ACTC1
42 oncocytic breast carcinoma 10.6 PGR ESR1
43 glomangiomyoma 10.6 ESR1 ACTC1
44 epulis 10.6 PGR DES
45 botryoid rhabdomyosarcoma 10.6 DES ACTC1
46 cerebral aneurysms 10.6 MMP2 ELN
47 bartholin's gland benign neoplasm 10.6 PGR ESR1
48 calcifying aponeurotic fibroma 10.6 PGR ACTC1
49 syringocystadenoma papilliferum 10.5 DES ACTC1
50 senile ectropion 10.5 MMP2 ELN

Graphical network of the top 20 diseases related to Lymphangioleiomyomatosis:



Diseases related to Lymphangioleiomyomatosis

Symptoms & Phenotypes for Lymphangioleiomyomatosis

Human phenotypes related to Lymphangioleiomyomatosis:

59 32 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dyspnea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002094
2 restrictive ventilatory defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0002091
3 pulmonary infiltrates 59 32 hallmark (90%) Very frequent (99-80%) HP:0002113
4 cough 59 32 hallmark (90%) Very frequent (99-80%) HP:0012735
5 chest pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0100749
6 emphysema 59 32 frequent (33%) Frequent (79-30%) HP:0002097
7 abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002027
8 hematuria 59 32 frequent (33%) Frequent (79-30%) HP:0000790
9 abnormality of female internal genitalia 59 32 frequent (33%) Frequent (79-30%) HP:0000008
10 atelectasis 59 32 frequent (33%) Frequent (79-30%) HP:0100750
11 lymphadenopathy 59 32 frequent (33%) Frequent (79-30%) HP:0002716
12 pneumothorax 59 32 frequent (33%) Frequent (79-30%) HP:0002107
13 renal angiomyolipoma 59 32 frequent (33%) Frequent (79-30%) HP:0006772
14 chylothorax 59 32 frequent (33%) Frequent (79-30%) HP:0010310
15 pulmonary lymphangiomyomatosis 59 32 frequent (33%) Frequent (79-30%) HP:0012798
16 ungual fibroma 59 32 frequent (33%) Frequent (79-30%) HP:0100804
17 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
18 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
19 recurrent respiratory infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002205
20 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
21 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
22 fever 59 32 occasional (7.5%) Occasional (29-5%) HP:0001945
23 fatigue 59 32 occasional (7.5%) Occasional (29-5%) HP:0012378
24 ascites 59 32 occasional (7.5%) Occasional (29-5%) HP:0001541
25 macule 59 32 occasional (7.5%) Occasional (29-5%) HP:0012733
26 abnormality of skin pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001000
27 gastrointestinal hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002239
28 lymphedema 59 32 occasional (7.5%) Occasional (29-5%) HP:0001004
29 multiple renal cysts 59 32 occasional (7.5%) Occasional (29-5%) HP:0005562
30 hemoptysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002105
31 abnormal urinary color 59 32 occasional (7.5%) Occasional (29-5%) HP:0012086
32 retinal hamartoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0009594
33 chylopericardium 59 32 occasional (7.5%) Occasional (29-5%) HP:0011852
34 shagreen patch 59 32 occasional (7.5%) Occasional (29-5%) HP:0009721
35 abnormality of the lymphatic system 59 Very frequent (99-80%)
36 renal neoplasm 59 Occasional (29-5%)

Clinical features from OMIM:

606690

GenomeRNAi Phenotypes related to Lymphangioleiomyomatosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability with paclitaxel GR00179-A-1 9.02 MTOR RPS6KB1
2 Decreased viability with paclitaxel GR00179-A-2 9.02 MTOR
3 Decreased viability with paclitaxel GR00179-A-3 9.02 MTOR RPS6KB1

MGI Mouse Phenotypes related to Lymphangioleiomyomatosis:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.38 ACTC1 DES ESR1 MMP14 MMP2 MTOR
2 homeostasis/metabolism MP:0005376 10.36 ACTC1 CTSK DES ESR1 MMP1 MMP14
3 cellular MP:0005384 10.3 ACTC1 CTSK DES ESR1 MMP14 MTOR
4 growth/size/body region MP:0005378 10.26 ACTC1 CTSK ESR1 MMP14 MMP2 MTOR
5 behavior/neurological MP:0005386 10.25 DES ESR1 MMP14 MTOR MYH10 PGR
6 mortality/aging MP:0010768 10.21 ACTC1 DES ESR1 MMP14 MMP2 MTOR
7 immune system MP:0005387 10.18 CTSK ESR1 MMP1 MMP14 MMP2 MTOR
8 embryo MP:0005380 10.16 ESR1 MMP14 MTOR MYH10 PGR RPS6KB1
9 hematopoietic system MP:0005397 10.16 CTSK ESR1 MMP14 MMP2 MTOR PGR
10 endocrine/exocrine gland MP:0005379 10.15 CTSK ESR1 MMP14 MTOR PGR RPS6KB1
11 muscle MP:0005369 10.06 ACTC1 DES ESR1 MMP14 MMP2 MTOR
12 adipose tissue MP:0005375 9.96 ESR1 MMP14 MTOR RPS6KB1 VEGFD
13 neoplasm MP:0002006 9.86 ESR1 MMP1 MMP2 PGR RPS6KB1 TSC1
14 normal MP:0002873 9.85 ACTC1 ESR1 MMP14 MMP2 MTOR MYH10
15 respiratory system MP:0005388 9.5 CTSK ESR1 MMP14 MMP2 MTOR SRF
16 skeleton MP:0005390 9.28 CTSK ESR1 MMP14 MMP2 MTOR MYH10

Drugs & Therapeutics for Lymphangioleiomyomatosis

PubMed Health treatment related to Lymphangioleiomyomatosis: 63

Currently, no treatment is available to stop the growth of the cysts and cell clusters that occur in LAM. Most treatments for LAM are aimed at easing symptoms and preventing complications. The main treatments are: Medicines to improve air flow in the lungs and reduce wheezing Oxygen therapy Procedures to remove fluid from the chest or abdomen and stop it from building up againProcedures to shrink angiomyolipomas (AMLs) Lung transplant Hormone therapy

Drugs for Lymphangioleiomyomatosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 86)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
2 Antimalarials Phase 4
3 Antiparasitic Agents Phase 4
4 Antiprotozoal Agents Phase 4
5
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
6
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605
7
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
8
Resveratrol Approved, Experimental, Investigational Phase 2 501-36-0 445154
9
Nintedanib Approved Phase 2 656247-17-5 56843413
10
Simvastatin Approved Phase 1, Phase 2 79902-63-9 54454
11
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
12
Sirolimus Approved, Investigational Phase 2 53123-88-9 6436030 5284616 46835353
13
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
14
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
15
Saracatinib Investigational Phase 2 379231-04-6
16 Estrogens Phase 2
17 Hormones Phase 2
18 Steroid Synthesis Inhibitors Phase 2
19 Hormone Antagonists Phase 2
20 Estrogen Receptor Antagonists Phase 2
21 Estrogen Antagonists Phase 2
22 Aromatase Inhibitors Phase 2
23 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
24 Gastrointestinal Agents Phase 2
25 Antineoplastic Agents, Hormonal Phase 2
26 Liver Extracts Phase 2
27 Antineoplastic Agents, Phytogenic Phase 2
28 Antioxidants Phase 2
29 Protective Agents Phase 2
30 Platelet Aggregation Inhibitors Phase 2
31 Lipid Regulating Agents Phase 1, Phase 2
32 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
33 Hypolipidemic Agents Phase 1, Phase 2
34 Anticholesteremic Agents Phase 1, Phase 2
35 Antimetabolites Phase 1, Phase 2
36 Analgesics Phase 2
37 Analgesics, Non-Narcotic Phase 2
38 Anti-Inflammatory Agents, Non-Steroidal Phase 2
39 Peripheral Nervous System Agents Phase 2
40 Anti-Inflammatory Agents Phase 2
41 Antirheumatic Agents Phase 2
42 Protein Kinase Inhibitors Phase 1, Phase 2
43 Imatinib Mesylate Phase 1, Phase 2 220127-57-1 123596
44 Cyclooxygenase Inhibitors Phase 2
45 Cola Phase 2
46 Cyclooxygenase 2 Inhibitors Phase 2
47 Antifungal Agents Phase 2
48 Anti-Bacterial Agents Phase 2
49 Anti-Infective Agents Phase 2
50 Immunologic Factors Phase 2

Interventional clinical trials:

(show all 46)
# Name Status NCT ID Phase Drugs
1 A Randomised, Double Blind, Placebo Controlled Trial of Doxycycline in Lymphangioleiomyomatosis. Completed NCT00989742 Phase 4 Doxycycline;Placebo
2 Phase IV, Single Arm Study of Safety and Efficacy of Everolimus in Chinese Adults With Tuberous Sclerosis Complex Who Have Renal Angiomyolipoma Not Requiring Immediate Surgery Recruiting NCT03525834 Phase 4 everolimus
3 Lymphangioleiomyomatosis Efficacy and Safety Trial Unknown status NCT00414648 Phase 3 Sirolimus;Placebo sirolimus
4 A Randomized, Double-blind, Placebo-controlled Study of RAD0001 in the Treatment of Angiomyolipoma in Patients With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00790400 Phase 3 Everolimus (RAD001);Everolimus Placebo
5 Multicenter Interventional Lymphangioleiomyomatosis (LAM) Early Disease Trial Recruiting NCT03150914 Phase 3 Sirolimus
6 A Trial of the Efficacy and Safety of Sirolimus(Rapamycin)Therapy for Renal Angiomyolipmoas in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Unknown status NCT00490789 Phase 2 sirolimus
7 A Phase II Multi-Center Study of Rapamycin for Treating Kidney Angiomyolipomas in TSC or LAM Patients Unknown status NCT00126672 Phase 2 sirolimus
8 A TRIAL OF LETROZOLE IN PULMONARY LYMPHANGIOLEIOMYOMATOSIS Completed NCT01353209 Phase 2 Letrozole;Placebo
9 An Exploratory, Open Label, Non-randomized, Within-patient Multiple Dose-escalation Safety, Tolerability, PK and Efficacy Trial of RAD001 (Everolimus) in Patients With Lymphangioleiomyomatosis Completed NCT01059318 Phase 2 Everolimus;Everolimus;Everolimus
10 Treatment With Octreotide in Patients With Lymphangioleiomyomatosis Completed NCT00005906 Phase 2 Octreotide
11 Rapamycin Therapy of Angiomyolipomas in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457808 Phase 2 Rapamycin, sirolimus
12 Long Term Follow Up for RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00792766 Phase 1, Phase 2 everolimus (RAD001)
13 RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457964 Phase 1, Phase 2 RAD001
14 Safety and Efficacy of Saracatinib In Subjects With Lymphangioleiomyomatosis Recruiting NCT02737202 Phase 2 saracatinib
15 Resveratrol and Sirolimus in Lymphangioleiomyomatosis Trial (RESULT) Recruiting NCT03253913 Phase 2 Sirolimus;Resveratrol
16 A Pilot Study of Nintedanib for LymphAngioleioMyomatosis (LAM) Recruiting NCT03062943 Phase 2 Nintedanib
17 The Efficacy and Safety of Sirolimus for Plastic Bronchitis:a Pilot Study Recruiting NCT03942926 Phase 2 Sirolimus
18 The Safety of Simvastatin (SOS) in Patients With Pulmonary Lymphangioleiomyomatosis (LAM) and With Tuberous Sclerosis Complex (TSC) Active, not recruiting NCT02061397 Phase 1, Phase 2 Simvastatin
19 LAM Pilot Study With Imatinib Mesylate Active, not recruiting NCT03131999 Phase 1, Phase 2 Imatinib Mesylate 400Mg Capsule;Placebo - Capsule
20 COLA: A Pilot Clinical Trial of COX-2 Inhibition in LAM and TSC Active, not recruiting NCT02484664 Phase 2 Celecoxib
21 A Phase II, Single-arm Open-label Multi-center Study of Sirolimus in Previously Treated Idiopathic Multicentric Castleman Disease Not yet recruiting NCT03933904 Phase 2 Sirolimus
22 The Tolerability of Saracatinib in Subjects With Lymphangioleiomyomatosis (LAM) (SLAM-1) Completed NCT02116712 Phase 1 Saracatinib
23 Targeting Autophagy for the Treatment of TSC and LAM: a Phase I Trial of Hydroxychloroquine and Sirolimus Completed NCT01687179 Phase 1 "Sirolimus" and "Hydroxychloroquine" 200 mg;"Sirolimus" and "Hydroxychloroquine" 400 mg
24 Bronchodilator Effects of Nebulized Versus Inhaled Albuterol In Subjects With Lymphangioleiomyomatosis Recruiting NCT01799538 Phase 1 albuterol inhaler;albuterol nebulizer
25 A Phase I Trial of Bevacizumab, Temsirolimus Alone and in Combination With Valproic Acid, or Cetuximab in Patients With Advanced Malignancy and Other Indications Recruiting NCT01552434 Phase 1 Temsirolimus;Valproic Acid
26 Definition of the Status of the Human Lung Stem Cell Niches ex Vivo in Tissue Biopsies Performed in Patients With Emphysema and Interstitial Fibrosis Compared to Non-diseased Areas Unknown status NCT02705144
27 Observational Study of Patients With Lymphangioleiomyomatosis and Pulmonary Hypertension Completed NCT00960895
28 Evaluation of the Impact of a Pulmonary Rehabilitation Program on Exercise Capacity in Patients With Lymphangioleiomyomatosis Completed NCT02009241
29 Lymphangioleiomyomatosis (LAM) Registry Completed NCT00001869
30 Effect of Fasting on the Size of Lymphangioleiomyomas in Patients With Lymphangioleiomyomatosis Completed NCT00552955
31 Effect of Daily Low Dose Aspirin on Exhaled Inflammatory Mediators in Normal Subjects Completed NCT00898222 aspirin
32 Lymphangioleiomyomatosis (LAM) Registry Completed NCT00005486
33 Role of Helicobacter Pylori and Its Toxins in Pulmonary and Oropharyngeal Disease Completed NCT00366509
34 The Effect of Lt to Rt Shunt Using Veno-veno-arterial Extracorporeal Membrane Oxygenation (ECMO) on Coronary Oxygenation in Lung Transplantation Patients Completed NCT02859194
35 Multicenter International Cross-Sectional Evaluation of Pulmonary Alveolar Proteinosis Trial Completed NCT03007134
36 A National Registry on Clinical Manifestations, Genetics, Interventions, and Outcomes in Chinese Patients With Lymphangioleiomyomatosis (LAM-CHINA) Recruiting NCT03193892
37 Characterization of the Pathogenesis of Lymphangioleiomyomatosis (LAM) Recruiting NCT00001465
38 National Lymphangioleiomyomatosis Registry, France Recruiting NCT01484236
39 Clinical Profile Characterization of Patients With Tuberous Sclerosis Complex, Lymphangioleiomyomatosis and Angiomyolipoma Followed at Hospital Das Clínicas, University of Sao Paulo Medical School Recruiting NCT02325505
40 National Multicenter Retrospective Study: PEComas: Natural History and Prognostic Recruiting NCT03916575
41 Discovery of Sirolimus Sensitive Biomarkers in Blood Recruiting NCT03304678
42 Multicenter International Durability and Safety of Sirolimus in LAM Trial (MIDAS) Recruiting NCT02432560 Sirolimus;Everolimus
43 Creation of a Biospecimen Repository From Patients With Interstitial Lung Diseases (ILD) Recruiting NCT03478826
44 Lymphatic Anomalies Registry Recruiting NCT02399527
45 Characterization of the Pathogenesis of Primary and Secondary Lymphatic Disorders Recruiting NCT02156115
46 Epidemiological Study of the Genetic Heterogeneity and Genotype-phenotype Correlation of Children and Adults With Tuberous Sclerosis Complex - An International, Multicenter, Epidemiological Protocol Recruiting NCT02654340

Search NIH Clinical Center for Lymphangioleiomyomatosis

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Sirolimus

Cochrane evidence based reviews: lymphangioleiomyomatosis

Genetic Tests for Lymphangioleiomyomatosis

Genetic tests related to Lymphangioleiomyomatosis:

# Genetic test Affiliating Genes
1 Lymphangiomyomatosis 29 TSC1 TSC2

Anatomical Context for Lymphangioleiomyomatosis

MalaCards organs/tissues related to Lymphangioleiomyomatosis:

41
Lung, Kidney, Smooth Muscle, Lymph Node, Testes, Endothelial, Liver

Publications for Lymphangioleiomyomatosis

Articles related to Lymphangioleiomyomatosis:

(show top 50) (show all 1718)
# Title Authors PMID Year
1
Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis. 9 38 8 71
11829138 2002
2
Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis. 38 8 71
10823953 2000
3
Evidence that lymphangiomyomatosis is caused by TSC2 mutations: chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis. 9 38 8
9529362 1998
4
Extrapulmonary lymphangioleiomyomatosis and lymphangiomatous cysts in tuberous sclerosis complex. 9 38 8
7791386 1995
5
Recurrent lymphangiomyomatosis after transplantation: genetic analyses reveal a metastatic mechanism. 38 8
12411287 2003
6
Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis. 38 8
10633137 2000
7
Pulmonary lymphangioleiomyomatosis. A study of 69 patients. Groupe d'Etudes et de Recherche sur les Maladies "Orphelines" Pulmonaires (GERM"O"P). 38 8
10499073 1999
8
Lung transplantation for lymphangioleiomyomatosis. 38 8
8857007 1996
9
Pulmonary tuberous sclerosis. 38 8
7813275 1995
10
Lymphangioleiomyomatosis. 38 8
8323071 1993
11
Lymphangioleiomyomatosis. Clinical course in 32 patients. 38 8
2215609 1990
12
Complete inactivation of the TSC2 gene leads to formation of hamartomas. 71
10577937 1999
13
Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients. 71
8824881 1996
14
Mutation and cancer: statistical study of retinoblastoma. 71
5279523 1971
15
A high-throughput, cell-based screening method for siRNA and small molecule inhibitors of mTORC1 signaling using the In Cell Western technique. 9 38
20085456 2010
16
CT of sclerotic bone lesions: imaging features differentiating tuberous sclerosis complex with lymphangioleiomyomatosis from sporadic lymphangioleiomymatosis. 9 38
20177097 2010
17
Animal models of lymphangioleiomyomatosis (LAM) and tuberous sclerosis complex (TSC). 9 38
20235887 2010
18
Mammalian target of rapamycin regulates murine and human cell differentiation through STAT3/p63/Jagged/Notch cascade. 9 38
20038814 2010
19
Vascular endothelial growth factors C and D induces proliferation of lymphangioleiomyomatosis cells through autocrine crosstalk with endothelium. 9 38
19717640 2009
20
Signal transducer and activator of transcription 3 is required for abnormal proliferation and survival of TSC2-deficient cells: relevance to pulmonary lymphangioleiomyomatosis. 9 38
19596836 2009
21
Utility of [18F]2-fluoro-2-deoxyglucose-PET in sporadic and tuberous sclerosis-associated lymphangioleiomyomatosis. 9 38
19349386 2009
22
Signaling events downstream of mammalian target of rapamycin complex 2 are attenuated in cells and tumors deficient for the tuberous sclerosis complex tumor suppressors. 9 38
19602587 2009
23
TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex. 9 38
19419980 2009
24
The methylation of the TSC2 promoter underlies the abnormal growth of TSC2 angiomyolipoma-derived smooth muscle cells. 9 38
19443708 2009
25
Distinct clinical characteristics of tuberous sclerosis complex patients with no mutation identified. 9 38
19133941 2009
26
Cathepsin-k expression in pulmonary lymphangioleiomyomatosis. 9 38
19060845 2009
27
Therapeutic targeting of mTOR in tuberous sclerosis. 9 38
19143643 2009
28
The pathogenesis and imaging of the tuberous sclerosis complex. 9 38
18414839 2008
29
Activation of the estrogen receptor contributes to the progression of pulmonary lymphangioleiomyomatosis via matrix metalloproteinase-induced cell invasiveness. 9 38
18285421 2008
30
PEComas: the past, the present and the future. 9 38
18080139 2008
31
"Malignant" uterine perivascular epithelioid cell tumor, pelvic lymph node lymphangioleiomyomatosis, and gynecological pecomatosis in a patient with tuberous sclerosis: a case report and review of the literature. 9 38
18156981 2008
32
TSC2 loss in lymphangioleiomyomatosis cells correlated with expression of CD44v6, a molecular determinant of metastasis. 9 38
17975002 2007
33
Pulmonary lymphangioleiomyomatosis in a karyotypically normal man without tuberous sclerosis complex. 9 38
17431222 2007
34
Survivin expression in tuberous sclerosis complex cells. 9 38
17592551 2007
35
Sporadic lymphangioleiomyomatosis and tuberous sclerosis complex with lymphangioleiomyomatosis: comparison of CT features. 9 38
17105849 2007
36
Subcellular distribution of the TSC2 gene product tuberin in human airway smooth muscle cells is driven by multiple localization sequences and is cell-cycle dependent. 9 38
16905638 2007
37
Tuberin nuclear localization can be regulated by phosphorylation of its carboxyl terminus. 9 38
17114346 2006
38
Frequent [corrected] hyperphosphorylation of ribosomal protein S6 [corrected] in lymphangioleiomyomatosis-associated angiomyolipomas. 9 38
16575396 2006
39
Abnormal growth of smooth muscle-like cells in lymphangioleiomyomatosis: Role for tumor suppressor TSC2. 9 38
16424383 2006
40
The role of tuberin in cellular differentiation: are B-Raf and MAPK involved? 9 38
16382052 2005
41
Isolation and growth of smooth muscle-like cells derived from tuberous sclerosis complex-2 human renal angiomyolipoma: epidermal growth factor is the required growth factor. 9 38
16192644 2005
42
Unilateral lymphangioleiomyomatosis. 9 38
16077340 2005
43
Estrogen enhances whereas tamoxifen retards development of Tsc mouse liver hemangioma: a tumor related to renal angiomyolipoma and pulmonary lymphangioleiomyomatosis. 9 38
15781664 2005
44
Imbalanced plasminogen system in lymphangioleiomyomatosis: potential role of serum response factor. 9 38
15514113 2005
45
TSC2 modulates actin cytoskeleton and focal adhesion through TSC1-binding domain and the Rac1 GTPase. 9 38
15611338 2004
46
A patient with TSC1 germline mutation whose clinical phenotype was limited to lymphangioleiomyomatosis. 9 38
15257730 2004
47
Matrix proteoglycans and remodelling of interstitial lung tissue in lymphangioleiomyomatosis. 9 38
15141380 2004
48
Tumour suppressors hamartin and tuberin: intracellular signalling. 9 38
12781866 2003
49
Nongenomic estrogen action regulates tyrosine phosphatase activity and tuberin stability. 9 38
12581886 2003
50
Tuberin, the tuberous sclerosis complex 2 tumor suppressor gene product, regulates Rho activation, cell adhesion and migration. 9 38
12466966 2002

Variations for Lymphangioleiomyomatosis

ClinVar genetic disease variations for Lymphangioleiomyomatosis:

6 (show top 50) (show all 87)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TSC1 NM_000368.4(TSC1): c.495C> A (p.Cys165Ter) single nucleotide variant Pathogenic rs118203388 9:135798748-135798748 9:132923361-132923361
2 TSC2 NM_000548.5(TSC2): c.5024C> T (p.Pro1675Leu) single nucleotide variant Pathogenic rs45483392 16:2137898-2137898 16:2087897-2087897
3 TSC2 NM_000548.5(TSC2): c.1513C> T (p.Arg505Ter) single nucleotide variant Pathogenic rs45517179 16:2114342-2114342 16:2064341-2064341
4 TSC2 NM_000548.5(TSC2): c.1832G> A (p.Arg611Gln) single nucleotide variant Pathogenic rs28934872 16:2120572-2120572 16:2070571-2070571
5 TSC2 NM_000548.5(TSC2): c.1096G> T (p.Glu366Ter) single nucleotide variant Pathogenic rs45517148 16:2110791-2110791 16:2060790-2060790
6 TSC2 NM_000548.5(TSC2): c.5238_5255del (p.His1746_Arg1751del) deletion Pathogenic rs137854218 16:2138305-2138322 16:2088304-2088321
7 TSC2 NM_000548.5(TSC2): c.1458del (p.Ser487fs) deletion Pathogenic 16:2114287-2114287 16:2064286-2064286
8 TSC2 NM_000548.5(TSC2): c.2251C> T (p.Arg751Ter) single nucleotide variant Pathogenic rs45517222 16:2122880-2122880 16:2072879-2072879
9 TSC2 NM_000548.5(TSC2): c.3442C> T (p.Gln1148Ter) single nucleotide variant Pathogenic rs45477491 16:2130210-2130210 16:2080209-2080209
10 TSC2 NM_000548.5(TSC2): c.5138G> A (p.Arg1713His) single nucleotide variant Pathogenic rs45517395 16:2138118-2138118 16:2088117-2088117
11 TSC2 NM_000548.5(TSC2): c.1831C> T (p.Arg611Trp) single nucleotide variant Pathogenic rs45469298 16:2120571-2120571 16:2070570-2070570
12 TSC2 NM_000548.5(TSC2): c.5227C> T (p.Arg1743Trp) single nucleotide variant Pathogenic rs45517412 16:2138294-2138294 16:2088293-2088293
13 TSC1 NM_000368.4(TSC1): c.682C> T (p.Arg228Ter) single nucleotide variant Pathogenic rs118203427 9:135796805-135796805 9:132921418-132921418
14 TSC1 NM_000368.4(TSC1): c.491G> A (p.Trp164Ter) single nucleotide variant Pathogenic rs118203387 9:135798752-135798752 9:132923365-132923365
15 TSC1 NM_000368.4(TSC1): c.2074C> T (p.Arg692Ter) single nucleotide variant Pathogenic rs118203631 9:135779172-135779172 9:132903785-132903785
16 TSC1 NM_000368.4(TSC1): c.1525C> T (p.Arg509Ter) single nucleotide variant Pathogenic rs118203542 9:135781440-135781440 9:132906053-132906053
17 TSC1 NM_000368.4(TSC1): c.1033del (p.Thr345fs) deletion Likely pathogenic 9:135786497-135786497 9:132911110-132911110
18 TSC2 NM_000548.5(TSC2): c.225+1G> A single nucleotide variant Likely pathogenic 16:2100488-2100488 16:2050487-2050487
19 TSC2 NM_000548.5(TSC2): c.2545+5G> C single nucleotide variant Likely pathogenic rs1131691965 16:2124395-2124395 16:2074394-2074394
20 TSC1 NM_000368.4(TSC1): c.2075G> A (p.Arg692Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs199755731 9:135779171-135779171 9:132903784-132903784
21 TSC2 NM_000548.5(TSC2): c.1577G> C (p.Ser526Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs376573446 16:2114406-2114406 16:2064405-2064405
22 TSC2 NM_000548.5(TSC2): c.5233C> T (p.Arg1745Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs760413281 16:2138300-2138300 16:2088299-2088299
23 TSC2 NM_000548.5(TSC2): c.4086C> T (p.Val1362=) single nucleotide variant Conflicting interpretations of pathogenicity rs763847509 16:2134309-2134309 16:2084308-2084308
24 TSC2 NM_000548.5(TSC2): c.2015C> T (p.Pro672Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs768864353 16:2121853-2121853 16:2071852-2071852
25 TSC2 NM_000548.5(TSC2): c.4565A> G (p.Asn1522Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs144062721 16:2135023-2135023 16:2085022-2085022
26 TSC2 NM_000548.5(TSC2): c.5383C> T (p.Arg1795Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs45517423 16:2138570-2138570 16:2088569-2088569
27 TSC2 NM_000548.5(TSC2): c.4225C> T (p.Arg1409Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs45517333 16:2134448-2134448 16:2084447-2084447
28 TSC2 NM_000548.5(TSC2): c.4027_4029GAG[1] (p.Glu1344del) short repeat Conflicting interpretations of pathogenicity rs878854100 16:2134253-2134255 16:2084252-2084254
29 TSC2 NM_000548.5(TSC2): c.251C> T (p.Ala84Val) single nucleotide variant Conflicting interpretations of pathogenicity rs35660529 16:2103368-2103368 16:2053367-2053367
30 TSC2 NM_000548.5(TSC2): c.1678G> A (p.Val560Met) single nucleotide variant Uncertain significance rs141631268 16:2115598-2115598 16:2065597-2065597
31 TSC2 NM_000548.5(TSC2): c.4498G> A (p.Val1500Met) single nucleotide variant Uncertain significance rs397515167 16:2134956-2134956 16:2084955-2084955
32 TSC2 NM_000548.5(TSC2): c.1033C> T (p.Leu345Phe) single nucleotide variant Uncertain significance rs397515146 16:2110728-2110728 16:2060727-2060727
33 TSC2 NM_000548.5(TSC2): c.3956A> T (p.Asp1319Val) single nucleotide variant Uncertain significance rs45517322 16:2133768-2133768 16:2083767-2083767
34 TSC1 NM_000368.4(TSC1): c.2303G> A (p.Arg768His) single nucleotide variant Uncertain significance rs1033725987 9:135778080-135778080 9:132902693-132902693
35 TSC2 NM_000548.5(TSC2): c.1774A> G (p.Ser592Gly) single nucleotide variant Uncertain significance rs910068556 16:2120514-2120514 16:2070513-2070513
36 TSC2 NM_000548.5(TSC2): c.*61_*62del deletion Uncertain significance rs36032671 16:2138672-2138673 16:2088671-2088672
37 TSC1 NM_000368.4(TSC1): c.941C> T (p.Thr314Met) single nucleotide variant Uncertain significance rs373454700 9:135786928-135786928 9:132911541-132911541
38 TSC2 NM_000548.5(TSC2): c.560A> G (p.Asn187Ser) single nucleotide variant Uncertain significance rs45505405 16:2105481-2105481 16:2055480-2055480
39 TSC2 NM_000548.5(TSC2): c.1373G> A (p.Arg458Gln) single nucleotide variant Uncertain significance rs878854077 16:2112984-2112984 16:2062983-2062983
40 TSC2 NM_000548.5(TSC2): c.1622C> G (p.Pro541Arg) single nucleotide variant Uncertain significance rs752953762 16:2115542-2115542 16:2065541-2065541
41 TSC2 NM_000548.5(TSC2): c.1870G> A (p.Asp624Asn) single nucleotide variant Uncertain significance 16:2121541-2121541 16:2071540-2071540
42 TSC2 NM_000548.5(TSC2): c.1172_1174del (p.Val391del) deletion Uncertain significance 16:2111922-2111924 16:2061923-2061925
43 TSC2 NM_000548.5(TSC2): c.2295C> G (p.Ala765=) single nucleotide variant Uncertain significance 16:2122924-2122924 16:2072923-2072923
44 TSC2 NM_000548.5(TSC2): c.2479_2481GTG[1] (p.Val828del) short repeat Uncertain significance 16:2124322-2124324 16:2074323-2074325
45 TSC2 NM_000548.5(TSC2): c.2479G> A (p.Val827Met) single nucleotide variant Uncertain significance 16:2124324-2124324 16:2074323-2074323
46 TSC2 NM_000548.5(TSC2): c.3226G> A (p.Gly1076Arg) single nucleotide variant Uncertain significance rs747910305 16:2129371-2129371 16:2079370-2079370
47 TSC2 NM_000548.5(TSC2): c.4063A> G (p.Arg1355Gly) single nucleotide variant Uncertain significance rs1555513911 16:2134286-2134286 16:2084285-2084285
48 TSC2 NM_000548.5(TSC2): c.501G> C (p.Trp167Cys) single nucleotide variant Uncertain significance rs755728007 16:2105422-2105422 16:2055421-2055421
49 TSC2 NM_000548.5(TSC2): c.3551C> T (p.Ala1184Val) single nucleotide variant Uncertain significance rs1060500939 16:2130319-2130319 16:2080318-2080318
50 TSC2 NM_000548.5(TSC2): c.3435G> A (p.Pro1145=) single nucleotide variant Uncertain significance rs749633483 16:2130203-2130203 16:2080202-2080202

UniProtKB/Swiss-Prot genetic disease variations for Lymphangioleiomyomatosis:

74
# Symbol AA change Variation ID SNP ID
1 TSC2 p.Arg611Gln VAR_005650 rs28934872

Expression for Lymphangioleiomyomatosis

Search GEO for disease gene expression data for Lymphangioleiomyomatosis.

Pathways for Lymphangioleiomyomatosis

Pathways related to Lymphangioleiomyomatosis according to KEGG:

37
# Name Kegg Source Accession
1 p53 signaling pathway hsa04115
2 mTOR signaling pathway hsa04150
3 Insulin signaling pathway hsa04910

Pathways related to Lymphangioleiomyomatosis according to GeneCards Suite gene sharing:

(show all 42)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.74 VEGFD VEGFC TSC2 TSC1 SRF MYH10
2
Show member pathways
12.97 VEGFD VEGFC TSC2 TSC1 RPS6KB1 MTOR
3
Show member pathways
12.93 VEGFD VEGFC PGR MMP2 MMP1 ESR1
4
Show member pathways
12.85 VEGFD VEGFC TSC2 TSC1 RPS6KB1 MTOR
5
Show member pathways
12.68 MMP2 MMP14 MMP1 ELN CTSK
6
Show member pathways
12.58 TSC2 RPS6KB1 MTOR MMP2 MMP14
7 12.47 SRF MYH10 DES ACTC1
8
Show member pathways
12.44 TSC2 TSC1 RPS6KB1 MTOR
9
Show member pathways
12.44 TSC2 TSC1 RPS6KB1 MTOR MMP2 ESR1
10 12.42 VEGFD VEGFC RPS6KB1 MTOR MMP2 MMP1
11
Show member pathways
12.37 TSC2 TSC1 RPS6KB1 MTOR
12
Show member pathways
12.36 TSC2 TSC1 SRF RPS6KB1 MTOR
13
Show member pathways
12.35 TSC2 TSC1 RPS6KB1 MTOR
14
Show member pathways
12.34 TSC2 TSC1 RPS6KB1 MTOR
15
Show member pathways
12.33 TSC2 TSC1 RPS6KB1 MTOR
16
Show member pathways
12.23 TSC2 TSC1 RPS6KB1 MTOR
17 12.23 RPS6KB1 MTOR MMP2 ESR1
18 12.19 TSC2 TSC1 RPS6KB1 MTOR
19
Show member pathways
12.15 TSC2 TSC1 RPS6KB1 MTOR
20
Show member pathways
12.08 TSC2 TSC1 RPS6KB1 MTOR
21 12.03 TSC2 TSC1 RPS6KB1 MTOR
22
Show member pathways
12 TSC2 TSC1 RPS6KB1 MTOR
23
Show member pathways
11.98 TSC2 RPS6KB1 MTOR MMP2
24 11.94 TSC2 MTOR ESR1
25 11.93 TSC2 TSC1 RPS6KB1 MTOR
26 11.85 VEGFD VEGFC MMP2
27 11.84 TSC2 TSC1 MTOR MMP1 ESR1
28 11.82 RPS6KB1 MTOR ESR1
29 11.8 TSC2 TSC1 RPS6KB1 MTOR
30 11.76 TSC2 TSC1 MTOR
31
Show member pathways
11.7 MMP2 MMP14 MMP1 CTSK
32 11.63 RPS6KB1 MTOR ESR1
33 11.58 MMP2 MMP14 MMP1
34 11.46 TSC2 TSC1 MTOR
35 11.4 TSC2 TSC1 RPS6KB1 MTOR
36 11.04 TSC2 RPS6KB1 MTOR
37 10.94 TSC1 MTOR
38
Show member pathways
10.89 RPS6KB1 MTOR
39 10.88 TSC2 TSC1 MTOR ESR1
40 10.85 RPS6KB1 MTOR
41 10.44 TSC2 TSC1 RPS6KB1 MTOR
42 10.38 SRF ACTC1

GO Terms for Lymphangioleiomyomatosis

Cellular components related to Lymphangioleiomyomatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.77 TSC2 TSC1 SRF RPS6KB1 PGR MYH10
2 extracellular matrix GO:0031012 9.46 MMP2 MMP14 MMP1 ELN
3 TSC1-TSC2 complex GO:0033596 8.62 TSC2 TSC1

Biological processes related to Lymphangioleiomyomatosis according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.81 VEGFD VEGFC MMP2 MMP14
2 positive regulation of endothelial cell proliferation GO:0001938 9.65 VEGFD VEGFC MTOR
3 vascular endothelial growth factor signaling pathway GO:0038084 9.59 VEGFD VEGFC
4 TOR signaling GO:0031929 9.58 RPS6KB1 MTOR
5 stress fiber assembly GO:0043149 9.58 SRF ELN
6 positive chemotaxis GO:0050918 9.58 VEGFD VEGFC TSC2
7 positive regulation of myotube differentiation GO:0010831 9.57 MTOR MMP14
8 negative regulation of macroautophagy GO:0016242 9.56 TSC1 MTOR
9 induction of positive chemotaxis GO:0050930 9.55 VEGFD VEGFC
10 response to hypoxia GO:0001666 9.55 VEGFD VEGFC SRF MMP2 MMP14
11 anoikis GO:0043276 9.54 TSC2 MTOR
12 negative regulation of insulin receptor signaling pathway GO:0046627 9.54 TSC2 TSC1 RPS6KB1
13 negative regulation of cell size GO:0045792 9.52 TSC1 MTOR
14 response to insulin GO:0032868 9.49 TSC1 MTOR
15 positive regulation of mast cell chemotaxis GO:0060754 9.46 VEGFD VEGFC
16 intramembranous ossification GO:0001957 9.43 MMP2 CTSK
17 cardiac myofibril assembly GO:0055003 9.43 SRF MYH10 ACTC1
18 long-term memory GO:0007616 9.32 SRF MTOR
19 extracellular matrix disassembly GO:0022617 9.26 MMP2 MMP14 MMP1 CTSK
20 collagen catabolic process GO:0030574 8.92 MMP2 MMP14 MMP1 CTSK

Molecular functions related to Lymphangioleiomyomatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.86 VEGFD VEGFC TSC2 TSC1 SRF RPS6KB1
2 identical protein binding GO:0042802 9.65 PMEL PGR MTOR ESR1 DES
3 metalloendopeptidase activity GO:0004222 9.5 MMP2 MMP14 MMP1
4 serine-type endopeptidase activity GO:0004252 9.16 MMP2 MMP1
5 vascular endothelial growth factor receptor 3 binding GO:0043185 8.62 VEGFD VEGFC

Sources for Lymphangioleiomyomatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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